Novel compound heterozygous PIEZO1 variants in dehydrated hereditary stomatocytosis initially suspected as myelodysplastic syndromes: a case report
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Introduction: Dehydrated hereditary stomatocytosis (DHS) is a rare autosomal dominant congenital non-immune hemolytic anemia caused by pathogenic variants in the PIEZO1 gene. Its clinical presentation often overlaps with other he... ...